Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families

Scandinavian Journal of Clinical and Laboratory Investigation

Volumn 60, Issue 3, 2000, Pages 221-228

  Schwarz, Peter ^b   Larsen, N E ^c   Lonborg Friis I M ^c   Lillquist, K ^c   Brown, E M ^a   Gammeltoft, S ^c  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CALCIUM HOMEOSTASIS; CONTROLLED STUDY; DNA SEQUENCE; FAMILIAL DISEASE; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCIURIA; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE;

EID: 0006653282     PISSN: 00365513     EISSN: None     Source Type: Journal    
DOI: 10.1080/003655100750044875     Document Type: Article

References (38)

1. 1 Foley TP, Harrison HC, Arnaud CD, Harrison HE. Familial benign hypercalcaemia. J Pediatr 1972; 81: 1060-7.
2. 2 Marx SJ, Attiie MF, Levine MA, Spiegel AM, Downs Jr RW, Lasker RD. The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindred's. Medicine 1981; 60: 397-412.
3. 3 Law WM, Heath III H. Familial benign hypercalcemia (hypocalciuric hypercalcemia): clinical and pathogenetic studies in 21 families. Ann Intern Med 1985; 102: 511-9.
4. 4 Marx SJ, Attie MF, Spiegel AM, Levine MA, Lasker RD, Fox M. An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. N Engl J Med 1982; 306: 257-64.
5. 5 Marx SJ, Fraser D, Rapoport A. Familial hypocalciuric hypercalcemia: mild expression of the gene in heterozygous and severe expression in homozygous. Am J Med 1985; 78: 15-22.
6. 6 Ross III AJ, Cooper A, Attie MF, Bishop HC. Primary hyperparathyroidism in infancy. J Pediart Surg 1986; 21: 493-9.
7. 7 Steinmann B, Gnehm HE, Rao VH, Kind HP, Prader A. Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia. Helv Paediatr Acta 1984; 39: 171-86.
8. 8 Eftekhari F, Yousefzadeh DK. Primary infantile hyperparathyroidism: clinical, laboratory, and radiographic features in 21 cases. Skel Radiol 1982; 8: 201-8.
9. 9 Orwoll E, Silbert J, McClung M. Asymptomatic neonatal familial hypercalcemia. Pediatrics 1982; 69: 109-11.
10. 10 Page LA, Haddow JE. Self-limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcemia. J Pediatr 1987; 111: 261-4.
11. 11 Harris SS, D'Ercole AJ. Neonatal hyperparathyroidism: the natural course in the absence of surgical intervention. Pediatrics 1989; 83: 53-6.
12. 12 Cole DEC, Forsythe CR, Dooley JM, Grantmyre EB, Salisbury SR. Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated. J Craniofacial Genet Dev Biol 1990; 10: 205-14.
13. 13 Cooper L, Wertheimer J, Levey R, et al. Severe primary hyperparathyroidism in a neonate with two hypercalcemic parents: management with parathyroidectomy and hetrotopic autotransplantation. Pediatrics 1986; 78: 263-8.
14. 14 Attie MF, Gill Jr JR, Stock JL, et al. Urinary calcium excretion in familial hypocalciuric hypercalcemia: persistence of relative hypocalciuria after induction of hypoparathyroidism. J Clin Invest 1983; 72: 667-76.
15. 15 Khosla S, Ebling PR, Firek AF, Burritt MM, Kao PC, Heath III H. Calcium infusion suggests a "setpoint" abnormality of parathyroid gland function in familial benign hypercalcemia and more complex disturbances in primary hyperparathyroidism. J Clin Endocrinol Metab 1993; 76: 715-20.
16. 16 Chou Y-HW, Brown EM, Levi T, et al. The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families. Nature Genet 1992; 1: 295-9.
17. 17 Heath III H, Jackson CE, Otterud B, Leppert MF. Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity. Am J Hum Genet 1993; 53: 193-200.
18. 18 Pollak MR, Chou Y-HW, Marx SJ, et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: effects of mutant gene dosage on phenotype. J Clin Invest 1994; 93: 1108-12.
19. 19 Lloyd SE, Pannett AA, Dixon PH, Whyte MP, Thakker RV. Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19qI3. Am J Hum Genet 1999; 64: 189-95.
20. 2+-sensing receptor from bovine parathyroid. Nature 1993; 366: 575-60.
21. 21 Garrett JE, Capuano IV, Hammerland LG, Hung BC, Brown EM, Hebert SC, Nemeth EF, Fuller F. Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem 1995; 270: 12919-25.
22. 2+-sensing receptor cDNA from human kidney. Biochem Biophys Res Comm 1995; 214: 524-9.
23. 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993; 75: 1297-303.
24. 2+-sensing receptor. J Biol Chem 1996; 271: 19537-45.
25. 2+-sensing receptor gene. J Clin Endocrinol Metab 1995; 80: 2594-8.
26. 26 Pearce S, Trump D, Wooding C, Besser G, Chew S, Heath D, Hughes I, Thakker R. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 1995; 96: 2683-92.
27. 2+-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am J Hum Genet 1995; 56: 880-6.
28. 28 Heath H III, Odelberg S, Jackson C, Teh B, Hayward N, Larsson C, Buist N, Krapcho K, Hung B, Capuano I, Garrett J, Leppert M. Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrinol Metab 1996; 81: 1312-7.
29. 29 Lønborg Friis I, Larsen NE, Lillquist K, Schwarz P. Neonatal svær hyperparathyreoidisme. Ugeskr Laeger 1999; 00: 000-000. (accepted)
30. 30 Brown EM. Physiology and pathophysiology of the extracellular calcium-sensing receptor. Am J Med 1999; 106: 238-53.
31. 31 Pearce SHS, Bai M, Quinn SJ, Kifor O, Brown EM, Thakker RV. Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest 1996; 98: 1860-6.
32. 32 Masu M, Tanabe Y, Tschida K, Nakanishi S. Sequence and expression of a metabotropic glutamate receptor. Nature 1991; 349: 760-5.
33. 33 O'Hara PJ, Sheppard PO, Thøgersen H, Venezia D, Haldeman BA, McGrane V, Houamed KM, Thomsen C, Gilbert TL, Mulvihill ER. The ligand-binding domain in metabotropic glutamate receptors is related to bacterial periplasmic binding proteins. Neuron 1993; 11: 41.
34. 2+-sensing function of the metabotropic glutamate receptors. Science 1998; 279: 1722-5.
35. 35 Brauner-Osborne H, Jensen AA, Sheppard PO, O'Hara P, Krogsgaard-Larsen P. The agonist-binding domain of the calcium-sensing receptor is located at the amino-terminal domain. J Biol Chem 1999; 274: 18382-6.
36. 36 Bai M, Trivedi S, Brown EM. Dimerization of the extracellular calcium-sensing receptor (CaR) on the cell surface of the CaR-transfected HEK293 cells. J Biol Chem 1998; 273: 23605-10.
37. 37 Ward DT, Brown EM, Harris HW. Disulphide bonds in the extracellular calcium-polyvalent cation-sensing receptor correlate with dimer formation and its response to divalent cations in vitro. J Biol Chem 1998; 273: 14476-83.
38. 2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest 1997; 99: 88-96.